Article
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
American journal of human genetics - 6 Oct 2016
Parry David A, Smith Claire E L, El-Sayed Walid, Poulter James A, Shore Roger C, Logan Clare V, Mogi Chihiro, Sato Koichi, Okajima Fumikazu, Harada Akihiro, Zhang Hong, Koruyucu Mine, Seymen Figen, Hu Jan C-C, Simmer James P, Ahmed Mushtaq, Jafri Hussain, Johnson Colin A, Inglehearn Chris F, Mighell Alan J
Abstract excerpt
Amelogenesis is the process of dental enamel formation, leading to the deposition of the hardest tissue in the human body. This process requires the intricate regulation of ion transport and controlled changes to the pH of the developing enamel matrix. The means by which the enamel organ regulates pH during amelogenesis is largely unknown. We identified rare homozygous variants in GPR68 in three families with...
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